Publications:

A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: TSC2: R458Q

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

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Molecular and immunophenotypic characterization of SMARCB1 (INI1) - deficient intrathoracic Neoplasms.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Haberecker, Martina M; Bühler, Marco Matteo MM; Mendieta, Alicia Pliego AP; Guggenberger, Roman R; Arnold, Fabian F; Markert, Eva E; Rechsteiner, Markus M; Zoche, Martin M; Britschgi, Christian C; Pauli, Chantal C

Publication Date: 2022-12

Variant appearance in text: TSC2: R458Q

PubMed Link: 35864317

Variant Present in the following documents:

• 41379_2022_1133_MOESM1_ESM.pdf

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: TSC2: R458Q

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s009.xlsx, sheet 1

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics

Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD

Publication Date: 2016-12-22

Variant appearance in text: TSC2: 1373G>A; R458Q

PubMed Link: 28007035

Variant Present in the following documents:

• 12881_2016_359_MOESM2_ESM.xlsx, sheet 1

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Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.

International Journal Of Biological Sciences

Chou, Wen-Chi WC; Lin, Po-Han PH; Yeh, Yi-Chen YC; Shyr, Yi-Ming YM; Fang, Wen-Liang WL; Wang, Shin-E SE; Liu, Chun-Yu CY; Chang, Peter Mu-Hsin PM; Chen, Ming-Han MH; Hung, Yi-Ping YP; Li, Chung-Pin CP; Chao, Yee Y; Chen, Ming-Huang MH

Publication Date: 2016

Variant appearance in text: TSC2: R458Q

PubMed Link: 27994516

Variant Present in the following documents:

• ijbsv12p1523s1.xls, sheet 1

View BVdb publication page